P54A (p.Pro54Ala) variant of NOTCH2 (Q04721)
P54A (p.Pro54Ala) in NOTCH2 (Q04721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P54A (p.Pro54Ala) variant details
- p.Pro54Ala
- ExAC rs782474556
- TOPMed rs782474556
- gnomAD rs782474556
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.12
- CADD 15.10
- PolyPhen-2 0.16
- SIFT 0.82
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.0018)
- Structural context available